Incidence of BRAF V600E Gene Mutation Among Lebanese Population in Melanoma and Colorectal Cancer: A Retrospective Study Between 2010 and 2019

2010年至2019年黎巴嫩人群黑色素瘤和结直肠癌中BRAF V600E基因突变发生率的回顾性研究

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Abstract

INTRODUCTION: Cancers arise owing to the accumulation of mutations in critical genes that leads to uncontrolled cell division and the avoidance of apoptosis. Among these oncogenes, BRAF is a potent mitogen-activated protein kinase (MAPK) pathway activator known to be somatically mutated by a glutamic acid to valine substitution at codon 600 (V600E). It is a common finding in various types of human cancers, including malignant melanoma and colorectal cancer (CRC), and is considered a poor prognostic factor and a predictive biomarker. The study aims to determine the incidence of BRAF V600E gene mutation in Lebanese patients with melanoma and CRC and its correlation with gender and age. METHODS:  We conducted a retrospective cohort design study in which 210 and 132 patients diagnosed to have melanoma and CRC, respectively, were recruited from 2010 to 2019 from "L'Institut National de Pathologie," where a specific polymerase chain reaction is used to detect BRAF mutations. Data from digitized records were collected, including demographic characteristics (age and gender), cancer type, and BRAF mutation. The collected data were analyzed using SPSS Statistics version 20.0 (IBM Corp., Armonk, NY). A p-value < 0.05 was considered significant. RESULTS: The incidence of BRAF mutation in melanoma is 88.10%. There is female predominance with a ratio of 2.6:1 (p = 0.240) and the majority of patients aged between 40 and 60 years (51.2%) with a mean age of 53.74 years. While in CRC, BRAF is mutated in 7.5% with a ratio of 1.2:1 of male predominance (p = 0.999). The majority of patients (54.8%) were between the ages of 60 and 80 years, with a mean age of 65.5 years. CONCLUSION: BRAF is a frequent oncogenic mutation that is found in lethal tumors. Targeted therapies for these cancers interfere with developing more effective therapeutic strategies, which affect the treatment response in BRAF mutants and improve the prognosis of the patients.

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